Detalhe da pesquisa
1.
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
Neuropediatrics
; 54(1): 31-36, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36126956
2.
Genetic diagnosis of childhood sensorineural hearing loss.
Acta Otorrinolaringol Esp (Engl Ed)
; 75(2): 83-93, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38224868
3.
Diagnostic yield of genetic testing in adults with sensorineural hearing loss.
Acta Otorrinolaringol Esp (Engl Ed)
; 2024 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38346493
4.
Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling.
Eur J Med Genet
; 65(8): 104539, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35705147
5.
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.
Genes (Basel)
; 12(4)2021 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33921431